Canonical Allele Identifier: CA2470918971

Gene: KDM5D

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707662G= , CM000686.2:g.19707662G=	GRCh38
NC_000024.9:g.21869548G= , CM000686.1:g.21869548G=	GRCh37
NC_000024.8:g.20328936G=	NCBI36
NG_032920.1:g.42278C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3484C= MANE Select	ENSP00000322408.4:p.Leu1162=
ENST00000317961.8:c.3484C=	ENSP00000322408.4:p.Leu1162=
ENST00000382806.6:c.3313C=	ENSP00000372256.2:p.Leu1105=
ENST00000415360.1:c.400C=	ENSP00000389433.1:p.Leu134=
ENST00000440077.5:c.3361C=	ENSP00000398543.1:p.Leu1121=
ENST00000469599.6:n.2082C=
ENST00000492117.1:n.3376C=
ENST00000541639.5:c.3577C=	ENSP00000444293.1:p.Leu1193=
NM_001146705.1:c.3577C=	NP_001140177.1:p.Leu1193=
NM_001146706.1:c.3313C=	NP_001140178.1:p.Leu1105=
NM_004653.4:c.3484C=	NP_004644.2:p.Leu1162=
XM_005262560.1:c.3349C=	XP_005262617.1:p.Leu1117=
XM_005262561.1:c.3253C=	XP_005262618.1:p.Leu1085=
XM_011531468.1:c.3406C=	XP_011529770.1:p.Leu1136=
XR_244571.2:n.3772C=
XR_430568.2:n.4106C=
XM_005262560.3:c.3349C=	XP_005262617.1:p.Leu1117=
XM_005262561.3:c.3253C=	XP_005262618.1:p.Leu1085=
XM_011531468.3:c.3406C=	XP_011529770.1:p.Leu1136=
XM_024452495.1:c.1474C=	XP_024308263.1:p.Leu492=
XM_024452496.1:c.1240C=	XP_024308264.1:p.Leu414=
XR_001756009.2:n.4222C=
XR_001756010.2:n.4222C=
XR_001756011.2:n.4087C=
XR_001756012.2:n.4235C=
XR_001756013.2:n.3553C=
XR_002958832.1:n.3654C=
XR_002958834.1:n.3878C=
XR_002958835.1:n.3761C=
XR_002958836.1:n.4444C=
XR_002958837.1:n.4251C=
XR_244571.4:n.3771C=
XR_430568.4:n.4105C=
NM_001146706.2:c.3313C=	NP_001140178.1:p.Leu1105=
NM_004653.5:c.3484C= MANE Select	NP_004644.2:p.Leu1162=
NM_001146705.2:c.3577C=	NP_001140177.1:p.Leu1193=